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Patients with early onset and family history of colon cancers are suggestive of Hereditary Nonpolyposis Colon Cancer (HNPCC) syndrome. Microsatellite instability analysis on tumor tissue is recommended as a screening …... More

Mutations in MUTYH are causative of MUTYH-associated polyposis (MAP). Unlike many of the hereditary cancer conditions, MAP is a recessive condition. Individuals with MAP have an increased lifetime risk of polyposis and …... More

Mutations in BMPR1A and SMAD4 are associated with Juvenile Polyposis syndrome (JPS). Individuals with JPS, have an increased risk for colorectal cancer (40-50%) and gastric cancer (up to 21%, if multiple polyps are …... More

Germline mutations in the CDH1 (E-cadherin gene) gene have been reported in families with a hereditary predisposition to breast cancer and gastric cancer. Sequencing and deletion/duplication analyses of the CDH1 gene …... More

Sequencing: This test should be offered to patients with colorectal cancer who meet the Bethesda criteria established by the National Cancer Institute (NCI), and/or that their tumors display microsatellite instability (…... More

Sequencing: This test should be offered to patients with colorectal cancer who meet the Bethesda criteria established by the National Cancer Institute (NCI), and/or that their tumors display microsatellite instability (…... More

Sequencing: This test should be offered to patients with colorectal cancer who meet the Bethesda criteria established by the National Cancer Institute (NCI), and/or that their tumors display microsatellite instability (…... More

Somatic mutation of the p53 tumor suppressor gene is the most common genetic alteration seen in human cancers, with 50% of adult human tumors bearing inactivating mutations or insertions, deletions in the P53 gene. …... More

Mutations in the STK11 (aka LKB1) gene causes Peutz-Jeghers syndrome (PJS) which is an autosomal dominant disorder with an increased risk of various neoplasms (especially gastrointestinal and breast cancers). Sequencing…... More

Mutations in the PTEN gene are the main cause of Cowden syndrome, which is characterized by hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms. …... More

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